CYP7A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	LINC00588, LINC00968 +226 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 598241	NM_000780.4(CYP7A1):c.6_7delinsAAT	CYP7A1	Indel (3 prime UTR variant)	not provided	GUncertain significance
Select item 500154	NM_000780.4(CYP7A1):c.*5A>G	CYP7A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 597134	NM_000780.4(CYP7A1):c.1473A>G (p.Pro491=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3079766	NM_000780.4(CYP7A1):c.1469C>G (p.Pro490Arg)	CYP7A1 (P490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2084241	NM_000780.4(CYP7A1):c.1469C>T (p.Pro490Leu)	CYP7A1 (P490L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807131	NM_000780.4(CYP7A1):c.1461C>T (p.Gly487=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062960	NM_000780.4(CYP7A1):c.1448G>A (p.Arg483Gln)	CYP7A1 (R483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596103	NM_000780.4(CYP7A1):c.1447C>T (p.Arg483Trp)	CYP7A1 (R483W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2726587	NM_000780.4(CYP7A1):c.1410A>T (p.Ile470=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593652	NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)	CYP7A1 (I470T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502429	NM_000780.4(CYP7A1):c.1384C>G (p.Leu462Val)	CYP7A1 (L462V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501694	NM_000780.4(CYP7A1):c.1382T>C (p.Met461Thr)	CYP7A1 (M461T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964753	NM_000780.4(CYP7A1):c.1374G>T (p.Leu458Phe)	CYP7A1 (L458F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290137	NM_000780.4(CYP7A1):c.1357G>A (p.Glu453Lys)	CYP7A1 (E453K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988261	NM_000780.4(CYP7A1):c.1348G>A (p.Ala450Thr)	CYP7A1 (A450T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525364	NM_000780.4(CYP7A1):c.1304T>C (p.Met435Thr)	CYP7A1 (M435T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2360421	NM_000780.4(CYP7A1):c.1293G>T (p.Lys431Asn)	CYP7A1 (K431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 287207	NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)	CYP7A1 (K431R)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2056243	NM_000780.4(CYP7A1):c.1249G>A (p.Gly417Arg)	CYP7A1 (G417R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776336	NM_000780.4(CYP7A1):c.1248C>T (p.Asn416=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 592638	NM_000780.4(CYP7A1):c.1238_1239del (p.Leu413fs)	CYP7A1 (L413fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3016153	NM_000780.4(CYP7A1):c.1233G>A (p.Arg411=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776278	NM_000780.4(CYP7A1):c.1229A>G (p.Asp410Gly)	CYP7A1, LOC126860400 (D410G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985706	NM_000780.4(CYP7A1):c.1224A>G (p.Lys408=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1232506	NM_000780.4(CYP7A1):c.1216-13A>G	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235467	NM_000780.4(CYP7A1):c.1216-108T>C	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316899	NM_000780.4(CYP7A1):c.1216-163G>A	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541598	NM_000780.4(CYP7A1):c.1215+13C>T	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 596775	NM_000780.4(CYP7A1):c.1215+8C>T	LOC126860400, CYP7A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501506	NM_000780.4(CYP7A1):c.1215+3A>G	CYP7A1, LOC126860400	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2247053	NM_000780.4(CYP7A1):c.1214T>G (p.Leu405Trp)	CYP7A1, LOC126860400 (L405W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3079764	NM_000780.4(CYP7A1):c.1204C>A (p.Pro402Thr)	CYP7A1, LOC126860400 (P402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 288450	NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)	CYP7A1, LOC126860400 (P398A)	Single nucleotide variant (missense variant)	CYP7A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1514946	NM_000780.4(CYP7A1):c.1175A>G (p.Gln392Arg)	CYP7A1, LOC126860400 (Q392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079763	NM_000780.4(CYP7A1):c.1172C>T (p.Pro391Leu)	CYP7A1, LOC126860400 (P391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030397	NM_000780.4(CYP7A1):c.1164T>C (p.Ala388=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 501418	NM_000780.4(CYP7A1):c.1129G>A (p.Gly377Ser)	CYP7A1, LOC126860400 (G377S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078522	NM_000780.4(CYP7A1):c.1119C>G (p.His373Gln)	CYP7A1, LOC126860400 (H373Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3008855	NM_000780.4(CYP7A1):c.1100A>T (p.Lys367Met)	CYP7A1, LOC126860400 (K367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594809	NM_000780.4(CYP7A1):c.1091G>A (p.Arg364Gln)	CYP7A1, LOC126860400 (R364Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635773	NM_000780.4(CYP7A1):c.1090C>T (p.Arg364Trp)	CYP7A1, LOC126860400 (R364W)	Single nucleotide variant (missense variant)	CYP7A1-related disorder	GUncertain significance
Select item 1926883	NM_000780.4(CYP7A1):c.1081C>G (p.Leu361Val)	CYP7A1, LOC126860400 (L361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594297	NM_000780.4(CYP7A1):c.1077C>T (p.Ala359=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2779151	NM_000780.4(CYP7A1):c.1066C>T (p.Leu356Phe)	LOC126860400, CYP7A1 (L356F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497296	NM_000780.4(CYP7A1):c.1059G>A (p.Ser353=)	CYP7A1, LOC126860400	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1316704	NM_000780.4(CYP7A1):c.1040-17del	CYP7A1, LOC126860400	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1316917	NM_000780.4(CYP7A1):c.1039+181A>G	CYP7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318430	NM_000780.4(CYP7A1):c.1039+11T>C	CYP7A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2729760	NM_000780.4(CYP7A1):c.1039+2T>A	CYP7A1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1557936	NM_000780.4(CYP7A1):c.1039G>A (p.Asp347Asn)	CYP7A1 (D347N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 289547	NM_000780.4(CYP7A1):c.1003T>C (p.Leu335=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 502270	NM_000780.4(CYP7A1):c.988G>A (p.Gly330Ser)	CYP7A1 (G330S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1070878	NM_000780.4(CYP7A1):c.959del (p.Glu320fs)	CYP7A1 (E320fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824543	NM_000780.4(CYP7A1):c.957del (p.Glu320fs)	CYP7A1 (E320fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3016971	NM_000780.4(CYP7A1):c.956T>C (p.Leu319Ser)	CYP7A1 (L319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728170	NM_000780.4(CYP7A1):c.940_946del (p.Glu314fs)	CYP7A1 (E314fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2319211	NM_000780.4(CYP7A1):c.943G>A (p.Val315Met)	CYP7A1 (V315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 497638	NM_000780.4(CYP7A1):c.937G>A (p.Glu313Lys)	CYP7A1 (E313K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911416	NM_000780.4(CYP7A1):c.918_919inv (p.Glu306_Ala307delinsAspSer)	CYP7A1	Inversion (missense variant)	not provided	GUncertain significance
Select item 2906009	NM_000780.4(CYP7A1):c.915A>G (p.Pro305=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290136	NM_000780.4(CYP7A1):c.909-4A>C	CYP7A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1316703	NM_000780.4(CYP7A1):c.908+31dup	CYP7A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1896527	NM_000780.4(CYP7A1):c.908+12C>T	CYP7A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 596567	NM_000780.4(CYP7A1):c.908+6T>G	CYP7A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2692798	NM_000780.4(CYP7A1):c.908+5C>T	CYP7A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 91913	NM_000780.4(CYP7A1):c.907A>T (p.Arg303Trp)	CYP7A1 (R303W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498393	NM_000780.4(CYP7A1):c.900A>G (p.Gln300=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2902473	NM_000780.4(CYP7A1):c.888G>C (p.Trp296Cys)	CYP7A1 (W296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276931	NM_000780.4(CYP7A1):c.880A>G (p.Thr294Ala)	CYP7A1 (T294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2060256	NM_000780.4(CYP7A1):c.857C>T (p.Ser286Leu)	CYP7A1 (S286L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864183	NM_000780.4(CYP7A1):c.850T>A (p.Trp284Arg)	CYP7A1 (W284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057902	NM_000780.4(CYP7A1):c.849C>T (p.Leu283=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 3079771	NM_000780.4(CYP7A1):c.845T>C (p.Val282Ala)	CYP7A1 (V282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 499388	NM_000780.4(CYP7A1):c.843G>A (p.Val281=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1638297	NM_000780.4(CYP7A1):c.840C>T (p.Leu280=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729804	NM_000780.4(CYP7A1):c.837C>A (p.His279Gln)	CYP7A1 (H279Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053370	NM_000780.4(CYP7A1):c.822G>A (p.Glu274=)	CYP7A1	Single nucleotide variant (synonymous variant)	CYP7A1-related disorder	GLikely benign
Select item 2771604	NM_000780.4(CYP7A1):c.819G>A (p.Leu273=)	CYP7A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593048	NM_000780.4(CYP7A1):c.818T>C (p.Leu273Pro)	CYP7A1 (L273P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978034	NM_000780.4(CYP7A1):c.815A>C (p.Asp272Ala)	CYP7A1 (D272A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079770	NM_000780.4(CYP7A1):c.800T>C (p.Leu267Ser)	CYP7A1 (L267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1927294	NM_000780.4(CYP7A1):c.791A>G (p.Asn264Ser)	CYP7A1 (N264S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287359	NM_000780.4(CYP7A1):c.779G>T (p.Arg260Leu)	CYP7A1 (R260L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978035	NM_000780.4(CYP7A1):c.778C>A (p.Arg260Ser)	CYP7A1 (R260S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594242	NM_000780.4(CYP7A1):c.763G>A (p.Glu255Lys)	CYP7A1 (E255K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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